| Bladder carcinoma is the most common in urothelial carcinoma,and renal pelvic cancer or ureteral cancer is the next.Early diagnosis is a key point for successful treatment. At present,cystoscopy is the "gold standard" in its diagnosis,imaging examination and urinary cytology(UC) are important auxiliary examination methods.But cystoscopy is an invasive investigation,UC is nonsensitive.Therefore,it is important to seek a method for early diagnosis and follow-up,which should be objective,noninvasive,highly sensitive and specific.It is important to improve diagnosis level and reduce mortality rate,with significant clinical application value.Objective:To evaluate the possibility and validity of detecting numerical aberration of chromosome 3,7,9 and 17 by fluorescence in situ hybridization(FISH) in order to diagnose urothelial carcinoma in Chinese.The main methods are as follows:140 volunteers and 53 patients with asymptomatic hematuria and a high degree of suspicious urothelial carcinoma are recruited.Exfoliated cells from their fresh urinary specimens are collected and then examined with centromeric probes of chromosome 3,7,17 and region probe of 9p21.These cells are subject to the FISH.At the same time, transabdominal ultrasonography(US) and cytological examination are applied to make confirmed diagnosis by use of cystoscopy and biopsy.The sensitivity and specificity of each method in the diagnosis of bladder cancer are determined by comparative analysis.The main results are as follows:(1) Tumor group:Among the 80 subjects in tumor group which were verified with pathology,68 patients showed positive by FISH,28 were positive by urine cytology,and 71 were positive by US.The sensitivity is 85.00%(68/80) for FISH,32.50%(26/80) for urine cytology,88.75%(71/80) for US and 100%for cystoscopy respectively.(2) Non-tumor control group.There are 30 patients with non-tumor hematuria.One patient show false-positive by FISH,30 are all negative for urine cytology,7 are false-positive for US. The specificities for each method is 96.67%(29/30),100.00%(30/30),76.67%(23/30).(3) Normal control group:30 are all normal for each examination method.(4) 15 in 53 patients with asymptomatic hematuria are positive for FISH.In the follow-up period(3-10 months) for 15 patients with positive FISH,5 patients are diagnosed to be those with urothelial bladder cancer and 2 patients with renal pelvic cancer.O is diagnosed to be those with urothelial carcinoma among 38 patients with negative FISH.In the case of urothelial cancer diagnosis,sensitivity of FISH is similar to that of US(χ~2=0.439,P=0.482),lower than that of cystoscopy(χ~2= 12.973,P=0.000),but obviously higher than that of cytology(χ~2= 45.493,P=0.000).The specificity of FISH is close to that of cytology(χ~2= 1.017,P =0.313) and cystoscopy(χ~2 = 1.017,P =0.313),but obviously better than US(χ~2= 5.192,P =0.023).The positive rate of FISH is 64.70%(11/17) for Ta,86.21%(25/29) for T1, 95.24%(20/21) for T2,87.50%(7/8) for T3,100.00%(5/5) for T4 respectively.The sensitivity of FISH for Ta is lower than for T1 - T4.Nevertheless,the sensitivity of FISH for Ta is higher than that of cytology,11.76%(2/17),(χ~2= 10.088,P=0.001).The main conclusion are as follows:1.The sensitivity of FISH is similar to that of US and lower than that of cystoscopy, but obviously better than cytology in bladder cancer detection.The specificity of FISH is close to that of cytology and cystoscopy,but significantly higher than US.2.FISH is a simple,noninvasive,sensitive and specific way for the detection of bladder cancer and has high sensitivity in the detection of the low grade bladder carcinoma. It has a wide application prospect and could supplant urinary cytology.3.FISH could be an early diagnosis method for urothelial cancer.
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